230672006: myasthénie congénitale (trouble)

SNOMED CT Concept\constatation clinique\...

\Hypersensitivity condition\Immune hypersensitivity disorder by mechanism (disorder)\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)

\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)

\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...

\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)

\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\trouble de la fonction immunitaire\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\trouble de la fonction immunitaire\Immune hypersensitivity disorder by mechanism (disorder)\Antibody-mediated activation and inactivation\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\trouble de la fonction immunitaire\Autoimmune disease\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Immune-mediated neuropathy\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Neuromuscular junction disorder\anomalie de la transmission neuromusculaire\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Neuromuscular junction disorder\anomalie de la transmission neuromusculaire\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)
\Disease\Congenital disease\Congenital myasthenic syndrome (disorder)
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\Myasthenia gravis\Genetically determined myasthenia\Congenital myasthenic syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital myasthenic syndrome (disorder)	localisation d'une constatation (attribut)	Neuromuscular junction (cell structure)	true	Inferred relationship	Some	1
Congenital myasthenic syndrome (disorder)	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	1
Congenital myasthenic syndrome (disorder)	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	2
Congenital myasthenic syndrome (disorder)	Pathological process (attribute)	Autoimmune process	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	est un(e) (attribut)	Congenital disease	true	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Due to	réaction d'hypersensibilité immunitaire	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Due to	réaction d'hypersensibilité	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	est un(e) (attribut)	Genetically determined myasthenia	true	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	Pathological process (attribute)	Hypersensitivity process (qualifier value)	true	Inferred relationship	Some	3
Congenital myasthenic syndrome (disorder)	localisation d'une constatation (attribut)	structure du système immunitaire	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	localisation d'une constatation (attribut)	Neuromuscular junction (cell structure)	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some
Congenital myasthenic syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital myasthenic syndrome (disorder)	localisation d'une constatation (attribut)	structure de muscle squelettique	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
déficit congénital de la plaque motrice en acétylcholinestérase	est un(e) (attribut)	True	Congenital myasthenic syndrome (disorder)	Inferred relationship	Some
Congenital end-plate acetylcholine receptor deficiency	est un(e) (attribut)	True	Congenital myasthenic syndrome (disorder)	Inferred relationship	Some
Familial infantile myasthenia	est un(e) (attribut)	True	Congenital myasthenic syndrome (disorder)	Inferred relationship	Some
Acetylcholine resynthesis deficiency	est un(e) (attribut)	True	Congenital myasthenic syndrome (disorder)	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
345610010	Congenital myasthenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3854359019	Congenital myasthenic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3854360012	Congenital myasthenic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3854361011	Congenital myasthenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618512010	Congenital myasthenia (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
699261000077110	myasthénie congénitale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
76751000077112	myasthénie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)